Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt.

ABSTRACT: Pathogenic variants in multiple genes on the X chromosome have been implicated in syndromic and non-syndromic intellectual disability disorders. ZFX on Xp22.11 encodes a transcription factor that has been linked to diverse processes including oncogenesis and development, but germline variants have not been characterized in association with disease. Here, we present clinical and molecular characterization of 18 individuals with germline ZFX variants. Exome or genome sequencing revealed 11 variants in 18 subjects (14 males and 4 females) from 16 unrelated families. Four missense variants were identified in 11 subjects, with seven truncation variants in the remaining individuals. Clinical findings included developmental delay/intellectual disability, behavioral abnormalities, hypotonia, and c

SUBMITTER: Shepherdson JL 

PROVIDER: S-EPMC10940019 | biostudies-literature | 2024 Mar

REPOSITORIES: biostudies-literature